{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,30]],"date-time":"2026-01-30T06:30:19Z","timestamp":1769754619713,"version":"3.49.0"},"reference-count":18,"publisher":"MDPI AG","issue":"2","license":[{"start":{"date-parts":[[2026,1,29]],"date-time":"2026-01-29T00:00:00Z","timestamp":1769644800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>Background\/Objectives: Autoimmune Polyendocrinopathy with Candidiasis and Ectodermal Dystrophy is an extremely rare autosomal recessive disorder caused by inborn errors of immunity. It is due to a loss-of-function mutation in the AIRE autoimmune regulator gene. Its manifestations include autoimmunity affecting endocrine glands, in addition to non-endocrine manifestations including dental enamel hypoplasia, alopecia areata, hepatitis, and chronic mucocutaneous candidiasis. Globally, 10 cases per million are affected by this condition, with higher incidence in highly consanguineous populations. Here, we describe a novel AIRE gene mutation in a pediatric patient from Lebanon, along with the observed phenotype. Method: A nine-year-old boy with history of craniosynostosis presented with jaundice. His past medical history was significant for recurrent oral thrush, keratoconjunctivitis, nail dystrophy, and alopecia. Upon presentation, he had jaundice, isolated splenomegaly, and severe failure to thrive. Laboratory tests showed transaminitis, cholestasis, and hypergammaglobulinemia. Abdominal ultrasound findings were suggestive of cirrhosis with compensated portal hypertension. The differential diagnosis included viral infection, inborn errors of metabolism, and autoimmune hepatitis. Results: Exome sequencing identified a novel homozygous pathogenic variant in the AIRE gene, NM_000383.4: c.1066dup p.(Arg356Profs*16), confirming the diagnosis. Conclusions: This study expands the genotypic and phenotypic spectrum of a rare inborn error of immunity in a child with chronic mucocutaneous candidiasis, enamel hypoplasia, and hepatitis.<\/jats:p>","DOI":"10.3390\/genes17020160","type":"journal-article","created":{"date-parts":[[2026,1,29]],"date-time":"2026-01-29T16:08:17Z","timestamp":1769702897000},"page":"160","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Genotype-Phenotype Delineation of Autoimmune Polyendocrinopathy, Candidiasis, and Ectodermal Dystrophy in a Pediatric Patient: A Case Report"],"prefix":"10.3390","volume":"17","author":[{"given":"Rima","family":"Hanna-Wakim","sequence":"first","affiliation":[{"name":"Division of Pediatric Infectious Diseases, Department of Pediatrics and Adolescent Medicine, American University of Beirut, Beirut 1107, Lebanon"},{"name":"Center for Infectious Disease Research, American University of Beirut, Beirut 1107, Lebanon"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0164-4935","authenticated-orcid":false,"given":"Pascale E.","family":"Karam","sequence":"additional","affiliation":[{"name":"Inherited Metabolic Diseases Program, Department of Pediatrics and Adolescent Medicine, American University of Beirut, Beirut 1107, Lebanon"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mazen","family":"Kurban","sequence":"additional","affiliation":[{"name":"Department of Dermatology, American University of Beirut, Beirut 1107, Lebanon"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2325-4113","authenticated-orcid":false,"given":"Nadine","family":"Yazbeck","sequence":"additional","affiliation":[{"name":"Division of Pediatric Gastroenterology and Nutrition, Department of Pediatrics and Adolescent Medicine, American University of Beirut, Beirut 1107, Lebanon"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2026,1,29]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","unstructured":"Ferre, E.M.N., Schmitt, M.M., and Lionakis, M.S. (2021). Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy. Front. Pediatr., 9.","DOI":"10.3389\/fped.2021.723532"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"448","DOI":"10.1097\/ACI.0000000000001041","article-title":"Where AIRE we now? Where AIRE we going?","volume":"24","author":"Bez","year":"2024","journal-title":"Curr. Opin. Allergy Clin. Immunol."},{"key":"ref_3","unstructured":"Feingold, K.R., Anawalt, B., Blackman, M.R., Boyce, A., Chrousos, G., and Corpas, E. (2000). Autoimmune Polyglandular Syndromes. Endotext, MDText.com, Inc."},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"3546","DOI":"10.1210\/jc.2017-00139","article-title":"Expanding the Phenotypic and Genotypic Landscape of Autoimmune Polyendocrine Syndrome Type 1","volume":"102","author":"Orlova","year":"2017","journal-title":"J. Clin. Endocrinol. 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